Active human retrotransposons: Variation and disease

Dustin C. Hancks, Haig H. Kazazian

Research output: Contribution to journalReview article

344 Scopus citations

Abstract

Mobile DNAs, also known as transposons or 'jumping genes', are widespread in nature and comprise an estimated 45% of the human genome. Transposons are divided into two general classes based on their transposition intermediate (DNA or RNA). Only one subclass, the non-LTR retrotransposons, which includes the Long INterspersed Element-1 (LINE-1 or L1), is currently active in humans as indicated by 96 disease-causing insertions. The autonomous LINE-1 is capable of retrotransposing not only a copy of its own RNA in cis but also other RNAs (Alu, SINE-VNTR-Alu (SVA), U6) in trans to new genomic locations through an element encoded reverse transcriptase. L1 can also retrotranspose cellular mRNAs, resulting in processed pseudogene formation. Here, we highlight recent reports that update our understanding of human L1 retrotransposition and their role in disease. Finally we discuss studies that provide insights into the past and current activity of these retrotransposons, and shed light on not just when, but where, retrotransposition occurs and its part in genetic variation.

Original languageEnglish (US)
Pages (from-to)191-203
Number of pages13
JournalCurrent Opinion in Genetics and Development
Volume22
Issue number3
DOIs
StatePublished - Jun 1 2012

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology

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